Personal Genomics, Personalized Medicine, & YOU

1. Personal Genomics, Personalized Medicine, & YOU Carrie Iwema, PhD, MLS, AHIP 30th April 2014 TLA’14

2. 1997

3. Outline Context Personal Genomics Personalized Medicine You (Consumer Impact)

4. Context

5. Broad Timeline of Genetics (video) from Genetics & Society: A Course for Educators by Rob DeSalle, PhD & David Randle, PhD

6. DNA Tutorials

7. NGS cost over time…

8. Timeline: Human Genome Sequence $24 K 15 days $2.7 B 13 yrs Human Genome Draft Sequence Individual Human Diploid Genome 2000 2007 2010 1995 2003 2007 2014 Jim Watson’s Genome 1st sequenced genome of a free living organism: Haemophilus Influenzae Complete Human Reference Genome $1K 15 mins $1 M 1 mth

9. Human Genome Project

10. GWAS: Genome Wide Association Studies

11. http://genome.ucsc.edu/ENCODE/ http://www.nature.com/encode/ http://www.genome.gov/10005107

12. GenomeTV Lecture Series

14. Personal Genomics

16. Personal Genome Project

17. What is a Personal Genome Sequence? • An analysis of all your genes • Looks for mutations & differences in your genome • Like taking all current and future genetic tests simultaneously • A Human Genome Project performed on YOU personal genetics educationproject (link)

18. Why get genetic testing? To find the right drugs, in the right doses, for my conditions Ideas for more tests and interventions if I learn I’m at risk Planning for my long term medical and financial needs I want to use my genome as a social networking tool Might reveal details of my family tree and genealogy I am an early adopter and information altruist To inform my reproductive decisions Motivation to change my habits personal genetics educationproject (link)

19. Genetic Testing Rationale • Predictive testing • Am I at risk for a genetic disease? • Diagnostic testing • Does my disease have a genetic basis? • Carrier testing • Might I pass on a genetic mutation to a potential child? • Prenatal testing • What can I learn about the genetic profile of my fetus? personal genetics educationproject (link)

20. DTC: Direct-To-Consumer Genetic Testing • Order kit • Spit into a tube • Send tube back • Company puts your DNA sample on a chip • “science” occurs • Report mailed back to you; may only be raw data • Genotype NOT full sequence (typically) • Consultations, analysis, worry, confusion… • How do they work?

21. SNP: single nucleotide polymorphism

22. DTC: Major Companies • 23andMe: genetics just go personal. • Personal genome API • FDA clearance • Navigenics: clinically guided genetic analysis • Bought out by Life Technologies • Pathway Genomics: The Value of Knowing • Must be ordered through a U.S. physician registered w/PG • deCODEme: deCODE your health • Discontinued sales $99

23. https://www.23andme.com/

24. “Nutrigenomics” etc…

25. Congress & DTC • Walgreens, Pathway Genomics, & FDA (May 2010) • Government Accountability Office (GAO) • 22 July 2010 • DTC genetic testing companies provide “results that are misleading and of little or no practical use.” • Companies: 23andMe, Navigenics, Pathway Genomics + others Degree of Regulation vsPublic Right to Personal Info

26. Suggested Regulation • Ensure appropriate info & consent procedures • Formal laboratory accreditation • Evidence of a valid gene-disease association • Appropriately qualified staff to interpret the test result • Consumer protection legislation to prevent false or misleading claims Regulating direct-to-consumer genetic tests: What is all the fuss about? Wright CF, Hall A, Zimmern RL. Genet Med. 2010 Oct 1. [Epub ahead of print] PMID: 20921893

27. Genetic testing on campus? • Summer 2010 • UC Berkeley • Undergrads • Free • In-house testing • 3 gene variants • Stanford U • Medical/grad • $99 • Navigenics or 23andMe • Full genotype sequencing

28. I’m doing it! • Talk to the company’s genetic counselors • Talk to your physician/genetic counselor • Do it yourself…? • SNPedia: wiki investigating human genetics • Promethease: uses SNPedia to analyze & help explain your DNA So you’ve got your sequence…now what?

29. Promethease Report

30. Crowdsourcing Health Conditions 23andMe & CureTogether

31. Crowdsourcing Example

32. Personalized Medicine

33. Human Genome, US Medicine, & the 4 P’s • Predictive • Use patient’s genome to determine probability of developing certain diseases • Preventive • Based on individual risk profile, start therapies in advance to reduce likelihood of illness • Personalized • Create drug therapies to suit each genome • Participatory • Patients will maintain own health by learning about their predispositions

34. Pharmacogenomics How an individual’s genetic inheritance affects the body’s response to drugs

35. Example—breast cancer • HER2oncogene • Over-expressed in 25-30% patients • Results in increase in replication of cancer cells • Treat w/Herceptin, a monoclonal antibody that inhibits HER2 BENEFITS • Herceptin targets ONLY cancerous cells, thus eliminating need to administer large drug doses • Identification of ONLY patients w/gene over-expression, thus preventing unnecessary treatments

36. Impact of genetic variation on drug response

37. Challenges How much should we fear discrimination at work and with insurance? What are the privacy concerns for individual and families? How can we ensure access for all who want to be sequenced? Will fair weight given to environmental & social factors? How realistic are promises of anonymity? How far ahead is the technology of its clinical usefulness? What surprises and secrets might be revealed? personal genetics educationproject (link)

38. Your doctor Your spouse Researchers studying genetics Law enforcement Your health insurer Your employer personal genetics educationproject (link) Access & Trust

39. Incidental Findings? 22 March 2013 • Labs performing genome/exome clinical sequencing to also report on 57 specific genes • No age restrictions, no choice to not know • Clinicians provide pre- & post-test counseling • Modified as needed due to technical advances

40. FEARS!!!

41. Genetic Discrimination

42. GINA: Genetic Information Non-discrimination Act “ The first civil rights legislation of the 21st century” -Senator Ted Kennedy Signed 28 May 2008 (After 13 years of debate.) personal genetics educationproject (link)

43. GINA: Prohibits genetic discrimination in health insurance & employment Title 1: Prohibits discrimination in group and individual health insurance plans. Forbids genetic information being used to deny coverage, adjust premiums, or require someone to take a genetic test. Title 2: Prohibits employers from using genetic information to make hiring, firing or promotion decisions. Severely limits employers rights to request, require, or purchase an employee’s genetic information. California… personal genetics educationproject (link)

44. Genome Statute & Legislation DB

45. Are Genes Patentable? Myriad Genetics case • 2009-current • BRCA1 and BRCA2 • Back & forth in court (Supreme Court 4/15/13) • Genes CANNOT be patented (9-0) (6/13/13) • Myriad now suing Ambry Genetics & Gene by Gene SciShow: Patenting Person Parts

46. Source: Mara Snyder and Bob Cook-Deegan, DNA Patent Database, 2 January 2012 Creative Commons "free use with attribution" license, with the attribution to Genomics Policy Resource.

48. 11th Oct 2012 • Data access & sharing policies • Privacy protections • Security • Compliance w/regulatory schemes (HIPAA) • Informed consent process & issues • Facilitate research progress • Public benefit

49. WEBINAR SERIES